Charcot-Marie-Tooth disease in northern Sweden: an epidemilogical and clinical study

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Abstract
One hundred four cases of Charcot-Marie-Tooth desease (CMT) in 52 families were identified within a defined area in northern Sweden corresponding to a prevalence rate of 20.1 cases per 100000. The distribution of cases was not uniform. The prevalence rate is compared with previous prevalences studies focusing on Charcot-Marie-Tooth disease or hereditary motor and sensory neurophaty (HMSN). Three patients were classified as the distal spinal muscular atrophy type of CMT and one patient was not possible to classfiy. For seventy-five patients, available to clinical examination within the study, data were collected as to age to onset, symnptoms, clinical findigs and degree of disability.